Canonical Allele Identifier: CA117191
Gene: TRPV4 HGNC NCBI

Linked Data

ClinVar Variation Id: 18432
ClinVar RCV Id: RCV000005300 RCV000202509
dbSNP Id: rs121912637
MyVariant Identifiers: chr12:g.110222183G>C (hg19) chr12:g.109784378G>C (hg38)
PubMed: PMID:20577006 PMID:24830047
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109784378G>C , CM000674.2:g.109784378G>C GRCh38
NC_000012.11:g.110222183G>C , CM000674.1:g.110222183G>C GRCh37
NC_000012.10:g.108706566G>C NCBI36
NG_017090.1:g.54030C>G , LRG_372:g.54030C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261740.7:c.2396C>G MANE Select ENSP00000261740.2:p.Pro799Arg
ENST00000418703.7:c.2396C>G ENSP00000406191.2:p.Pro799Arg
ENST00000674908.1:c.*1483C>G ENSP00000502012.1:n.*1483C>G
ENST00000675670.1:c.2396C>G ENSP00000502135.1:p.Pro799Arg
ENST00000261740.6:c.2396C>G ENSP00000261740.2:p.Pro799Arg
ENST00000418703.6:c.2396C>G ENSP00000406191.2:p.Pro799Arg
ENST00000536838.1:c.2294C>G ENSP00000444336.1:p.Pro765Arg
ENST00000537083.5:c.2216C>G ENSP00000442738.1:p.Pro739Arg
ENST00000538125.5:c.*779C>G ENSP00000437449.1:n.*779C>G
ENST00000541794.5:c.2255C>G ENSP00000442167.1:p.Pro752Arg
ENST00000544971.5:c.2075C>G ENSP00000443611.1:p.Pro692Arg
NM_001177428.1:c.2255C>G NP_001170899.1:p.Pro752Arg
NM_001177431.1:c.2294C>G NP_001170902.1:p.Pro765Arg
NM_001177433.1:c.2075C>G NP_001170904.1:p.Pro692Arg
NM_021625.4:c.2396C>G , LRG_372t1:c.2396C>G NP_067638.3:p.Pro799Arg
NM_147204.2:c.2216C>G NP_671737.1:p.Pro739Arg
XM_005253918.1:c.2396C>G XP_005253975.1:p.Pro799Arg
XM_011538630.1:c.2396C>G XP_011536932.1:p.Pro799Arg
XM_011538631.1:c.2255C>G XP_011536933.1:p.Pro752Arg
XM_011538632.1:c.2216C>G XP_011536934.1:p.Pro739Arg
XM_011538633.1:c.2075C>G XP_011536935.1:p.Pro692Arg
XM_011538630.2:c.2549C>G XP_011536932.2:p.Pro850Arg
XM_011538631.2:c.2408C>G XP_011536933.2:p.Pro803Arg
XM_011538632.2:c.2369C>G XP_011536934.2:p.Pro790Arg
XM_011538633.2:c.2228C>G XP_011536935.2:p.Pro743Arg
XM_017019774.1:c.2396C>G XP_016875263.1:p.Pro799Arg
NM_021625.5:c.2396C>G MANE Select NP_067638.3:p.Pro799Arg
Search 100 bp 5'
Search 100 bp 3'